Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 10, Pages 564-567Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2012.06.009
Keywords
Chromosomes; Human; Pair 19; Chromosome deletion; NOTCH3; CASP14; Hypertrichosis; Protruding front teeth
Categories
Ask authors/readers for more resources
We present a de novo 1.4 Mb deletion of chromosome 19p13.11-p13.12 in a 16 year old boy with intellectual disability, autistic features, microcephaly, hearing impairment, hypertrichosis, synophrys, protruding front teeth, and other dysmorphic features. By comparing our patient to reported cases with overlapping deletions, we have refined the minimal critical region of hypertrichosis, synophrys, and protruding front teeth to 305 kb, a region containing seven genes. CASP14, which is considered a good candidate gene for hypertrichosis, is not included in this region, questioning the causal relationship. (C) 2012 Elsevier Masson SAS. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available